List of works - Metodi D Metodiev

A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes

scientific article published on January 2011

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

scientific article published on 19 March 2018

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

scientific article published on 03 November 2019

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

scientific article published on 16 December 2015

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

scientific article published on 22 January 2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

scientific article published in February 2018

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

scientific article published on 03 October 2018

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

scientific article

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes

scientific article published on 10 June 2014

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

scientific article

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

scientific article

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome

scientific article

Mouse models for mitochondrial diseases.

scientific article published on 21 June 2016

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

scientific article published on 01 May 2019

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

scientific article

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

scientific article published on 09 November 2020

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

scientific article published on 17 September 2014

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

scientific article published on 13 November 2006

List of works by Metodi D Metodiev

A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome

Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome

Mouse models for mitochondrial diseases.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia